Variant report

Variant	rs73102383
Chromosome Location	chr1:227566950-227566951
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227505295..227507628-chr1:227565249..227568691,3	K562	blood:
2	chr1:227556870..227561275-chr1:227563192..227568675,6	K562	blood:
3	chr1:227472187..227474714-chr1:227565582..227567693,2	K562	blood:
4	chr1:227544242..227546740-chr1:227566888..227569637,2	K562	blood:
5	chr1:227561575..227564648-chr1:227564855..227568643,5	K562	blood:

Variant related genes	Relation type
ENSG00000143776	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11799772	0.85[AMR][1000 genomes]
rs11802810	0.85[AMR][1000 genomes]
rs11808370	0.85[AMR][1000 genomes]
rs11810240	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4495663	0.85[AMR][1000 genomes]
rs56897207	0.85[AMR][1000 genomes]
rs58582199	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59198448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6688385	0.85[AMR][1000 genomes]
rs6696713	0.85[AMR][1000 genomes]
rs6699740	0.85[AMR][1000 genomes]
rs73102326	0.85[AMR][1000 genomes]
rs73102327	0.85[AMR][1000 genomes]
rs73102341	0.85[AMR][1000 genomes]
rs73102365	0.85[AMR][1000 genomes]
rs73102377	0.85[AMR][1000 genomes]
rs74140179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv873242	chr1:227371906-227579344	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv549271	chr1:227411003-227581017	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1001353	chr1:227474785-227660691	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1003278	chr1:227563126-227678464	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227545800-227571200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:227565200-227567000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr1:227565400-227567000	Enhancers	Fetal Heart	heart
4	chr1:227565400-227567200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr1:227565400-227567200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr1:227565400-227567400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:227565400-227567400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr1:227565400-227567400	Enhancers	Psoas Muscle	Psoas
9	chr1:227565400-227567400	Enhancers	Right Atrium	heart
10	chr1:227565400-227567600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr1:227565600-227567000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr1:227565600-227567000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:227565600-227567200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr1:227565800-227567000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:227566000-227567200	Enhancers	HMEC	breast
16	chr1:227566000-227567200	Enhancers	NH-A	brain
17	chr1:227566200-227567200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:227566200-227567200	Enhancers	NHEK	skin
19	chr1:227566400-227567000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr1:227566400-227567200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:227566400-227567200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:227566400-227567400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:227566600-227567000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:227566600-227567600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:227566800-227567400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:227566800-227567400	Enhancers	Stomach Mucosa	stomach
27	chr1:227566800-227567400	Flanking Active TSS	K562	blood

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